Revel Score:
ENST00000403665 (MANE Select)
0.755
ENST00000264692
0.755
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186284209G>C , CM000666.2:g.186284209G>C | GRCh38 |
| NC_000004.11:g.187205363G>C , CM000666.1:g.187205363G>C | GRCh37 |
| NC_000004.10:g.187442357G>C | NCBI36 |
| NG_008051.1:g.23246G>C , LRG_583:g.23246G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.1253G>C MANE Select | ENSP00000384957.2:p.Gly418Ala | |
| ENST00000264692.8:c.1091G>C | ENSP00000264692.5:p.Gly364Ala | |
| ENST00000403665.6:c.1253G>C | ENSP00000384957.2:p.Gly418Ala | |
| NM_000128.3:c.1253G>C , LRG_583t1:c.1253G>C | NP_000119.1:p.Gly418Ala | |
| XM_005262821.2:c.1256G>C | XP_005262878.1:p.Gly419Ala | |
| XM_005262822.2:c.1256G>C | XP_005262879.1:p.Gly419Ala | |
| XM_005262823.2:c.986G>C | XP_005262880.1:p.Gly329Ala | |
| XM_005262824.1:c.1256G>C | XP_005262881.1:p.Gly419Ala | |
| XM_006714137.1:c.1208G>C | XP_006714200.1:p.Gly403Ala | |
| XR_938706.1:n.1661G>C | ||
| XR_938707.1:n.1661G>C | ||
| XM_005262821.4:c.1256G>C | XP_005262878.1:p.Gly419Ala | |
| XM_005262822.4:c.1256G>C | XP_005262879.1:p.Gly419Ala | |
| XM_005262823.4:c.986G>C | XP_005262880.1:p.Gly329Ala | |
| XM_006714137.3:c.1208G>C | XP_006714200.1:p.Gly403Ala | |
| XR_001741172.2:n.1727G>C | ||
| NM_000128.4:c.1253G>C MANE Select | NP_000119.1:p.Gly418Ala |